“We’d have been so happy just to get a diagnosis of epilepsy”: A reflexive thematic analysis of lived experiences of Tuberous Sclerosis Complex in Ireland

BACKGROUND: Tuberous Sclerosis Complex (TSC) is a rare autosomal, genetic condition associated with epilepsy, neurodevelopmental challenges and multisystem involvement. While clinical manifestations of TSC are well documented, there is limited evidence on the lived experiences of people living with TSC (PLW) and their families. This study reports on these experiences in the Republic of Ireland (ROI). OBJECTIVE: To explore the lived experiences of people living with TSC (PLW TSC) and their families in the ROI. METHODS: A qualitative, phenomenological study was conducted involving thirty-four semi-structured interviews with PLW TSC and their families. Data were analysed using reflexive thematic analysis, following established methodological practices. RESULTS: The complexity and variability of TSC were reflected in the heterogeneity of participant experiences. Managing the progressive, multiorgan nature of TSC was arduous, while resilience in the face of TSC was evidenced. Difficult to control epilepsy and/or Tuberous Sclerosis Neuropsychiatric Disorders (TAND) were experienced as particularly problematic. Entire families experienced emotional strain. Fragmented TSC care, perceived inadequate health, social and educational services and poor disease awareness in the healthcare professional community, saw people feeling stressed and isolated. CONCLUSION: PLW TSC and their families, face multidimensional challenges in coping with TSC in their daily lives, and in their interactions with the healthcare system. There is an urgent need to provide holistic coordinated health and social care and increase disease awareness among the clinical community.